The patient was born prematurely at 32 weeks with skin abnormalities all over the body and was diagnosed with the hereditary skin disorder Harlequin Ichthyosis. The patient was referred from a lower level for further treatment.

The child is born to a 27-year-old pregnant woman from the Dao ethnic group, residing in Van Don, Quang Ninh, with a pregnancy history indicated by PARA 3214. During this pregnancy, the mother did not undergo any fetal examinations, monitoring, or screening.

Harlequin Ichthyosis is a genetic skin disorder that highlights the evolutionary mechanism in our ancestors to adapt from the watery environment of the womb to the dry environment after birth. This adaptation involves the process of keratinization, where the skin forms a protective layer.

Newborns with this condition are born with thick, cracked horny layers on their skin. The patient is currently being monitored and treated at Quang Ninh Obstetrics and Pediatrics Hospital.

The disorder is caused by a recessive gene mutation on chromosome 2, specifically the ABCA12 gene. This gene regulates the synthesis of the ABCA12 protein in the skin, which is crucial for transporting lipids to the epidermis to form a protective barrier. When the ABCA12 protein is deficient or absent, lipids are not transported out but instead accumulate in the cell membrane, causing the stratum corneum (outermost layer of the skin) to thicken and harden.

This genetic mutation is autosomal recessive, meaning the child inherits two mutated genes, one from each parent. The lack of ABCA12 protein prevents the transport of fats, leading to severe skin changes. Lipids deposited inside the cell membrane cause the stratum corneum to become increasingly thicker and harder, eventually cracking into deep crevices.

The patient is under specialized care to manage the symptoms and complications associated with this rare and severe genetic disorder.